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Dina Simkin on Muck Rack

Dina Simkin

As seen in: Nature, Cell Press, Stem Cell Reports
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Articles

TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience

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By Brian Joseph, Kelly Marshall, Peter Harley, Wanhao Chi, Mercedes Prudencio, Dina Simkin, Tzu-Ting Kao, Matthew J. Keuss, Simone Barattucci, Puja R Mehta, Jonathan Lee, Marcel F. Leyton-Jaimes, Eleonora Aronica, Brian J. Wainger, Dennis W. Dickson, Chaolin Zhang, Hynek Wichterle, Jonathan Watts, Pietro Fratta, Kevin Eggan
| Nature Verified
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Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub - Nature Communications

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By Marc Forrest, Marc Dos Santos, Dina Simkin, María Dolores Martin-de-Saavedra, Jeffrey N Savas
| Nature Verified
Abstract Neuropsychiatric disorders (NPDs) are frequently co-morbid with epilepsy, but the biological basis of shared risk remains poorly understood. The 16p11.2 duplication is a copy number variant that confers risk for diverse NPDs including autism spectrum disorder, schizophrenia, intellectual disability and epilepsy.
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Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls

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By Byrne S.M, Bernabe I Bustos, Dina Simkin, Vasileios Papakis
| Stem Cell Reports Verified
Highlights • Examination of 27 iPSC clones generated after editing 9 genomic loci across 4 genes • CRISPR/Cas9-edited iPSC lines exhibit high incidence of large on-target defects • Majority of damaging on-target insertions are undetectable by PCR/Sanger sequencing • Description of cost-efficient quality control assays to detect on-target defects Summary The ability to precisely edit the genome of human induced pluripotent stem cell (iPSC) lines using CRISPR/Cas9 has enabled the development of...
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